Mutagenetix > Incidental Mutation

Incidental Mutation 'R6702:Nynrin'

528833

Institutional Source

Beutler Lab

Gene Symbol

Nynrin

Ensembl Gene

ENSMUSG00000075592

Gene Name

NYN domain and retroviral integrase containing

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6702 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

55854010-55874736 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 55864478 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 535 (T535A)

Ref Sequence

ENSEMBL: ENSMUSP00000129557 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100529] [ENSMUST00000168479] [ENSMUST00000227465]

AlphaFold

Q5DTZ0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000100529
AA Change: T535A

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000098098
Gene: ENSMUSG00000075592
AA Change: T535A

Domain	Start	End	E-Value	Type
low complexity region	581	606	N/A	INTRINSIC
Pfam:RNase_Zc3h12a	739	890	1.6e-54	PFAM
low complexity region	938	952	N/A	INTRINSIC
low complexity region	1212	1228	N/A	INTRINSIC
low complexity region	1390	1397	N/A	INTRINSIC
PDB:3S3O\|B	1478	1706	6e-8	PDB
SCOP:d1cxqa_	1552	1646	2e-12	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000168479
AA Change: T535A

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000129557
Gene: ENSMUSG00000075592
AA Change: T535A

Domain	Start	End	E-Value	Type
low complexity region	581	606	N/A	INTRINSIC
Pfam:RNase_Zc3h12a	739	890	5.5e-54	PFAM
low complexity region	938	952	N/A	INTRINSIC
low complexity region	1212	1228	N/A	INTRINSIC
low complexity region	1390	1397	N/A	INTRINSIC
PDB:3S3O\|B	1478	1706	6e-8	PDB
SCOP:d1cxqa_	1552	1646	2e-12	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181218

Predicted Effect

probably benign
Transcript: ENSMUST00000227465

Meta Mutation Damage Score

0.0602

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.5%

Validation Efficiency

97% (59/61)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020N01Rik	T	A	10: 21,621,659	Y66*	probably null	Het
2810474O19Rik	T	A	6: 149,327,878	N807K	probably damaging	Het
Ak3	A	G	19: 29,026,227	V183A	probably damaging	Het
Ano10	G	T	9: 122,259,564	Q397K	possibly damaging	Het
Atg7	C	A	6: 114,671,097		probably null	Het
Brpf3	A	C	17: 28,810,659	N531T	probably benign	Het
Casp2	T	C	6: 42,268,051	V128A	probably benign	Het
Cdcp2	T	C	4: 107,107,086	C378R	probably benign	Het
Cfap54	T	A	10: 92,868,734	D2828V	unknown	Het
Col6a3	T	C	1: 90,779,439	D1984G	unknown	Het
Csnk2a1	A	G	2: 152,258,688	T93A	probably benign	Het
Ddx54	T	A	5: 120,626,503	D758E	possibly damaging	Het
Dlx2	A	G	2: 71,546,227	S56P	probably damaging	Het
Dna2	T	A	10: 62,973,294	I1055N	possibly damaging	Het
Dnah10	A	G	5: 124,805,805	Y2909C	probably damaging	Het
Dnm3	A	G	1: 162,318,687	F296L	probably benign	Het
Fat1	A	G	8: 44,953,046	T945A	probably benign	Het
Herpud1	T	C	8: 94,392,526		probably null	Het
Iqub	T	A	6: 24,449,745	N707I	probably damaging	Het
Kif26b	C	G	1: 178,917,287	S1649R	possibly damaging	Het
Lamp5	C	G	2: 136,059,563	N102K	possibly damaging	Het
Ltbr	A	G	6: 125,308,068	S290P	probably benign	Het
Map4k1	T	G	7: 29,002,396	S803A	possibly damaging	Het
Mef2c	T	A	13: 83,625,406	C134S	possibly damaging	Het
Myo15	A	G	11: 60,492,992	I1622V	probably benign	Het
Nbea	A	G	3: 56,005,502	Y955H	probably benign	Het
Ndor1	A	G	2: 25,249,890	F142S	possibly damaging	Het
Olfr1176	G	A	2: 88,340,242	V226I	probably benign	Het
Olfr1290	T	A	2: 111,490,109		probably null	Het
Olfr205	C	T	16: 59,328,598	V304I	probably benign	Het
Olfr727	A	G	14: 50,127,231	Y218C	probably damaging	Het
Olfr916	A	T	9: 38,657,777	I205N	possibly damaging	Het
Pcdhb13	T	G	18: 37,444,775	H735Q	probably benign	Het
Pcdhb7	A	T	18: 37,341,906	M32L	probably benign	Het
Peg10	GC	GCTCC	6: 4,756,452		probably benign	Het
Per2	C	T	1: 91,427,949	E696K	probably damaging	Het
Pld4	T	C	12: 112,765,051	S213P	probably damaging	Het
Prkg1	T	A	19: 30,993,084	H209L	probably benign	Het
Psg16	T	C	7: 17,090,396	L35P	probably damaging	Het
Pxn	C	T	5: 115,551,896	L160F	probably benign	Het
Rab3a	A	G	8: 70,756,448	D77G	probably damaging	Het
Rgma	A	T	7: 73,417,320	T108S	probably damaging	Het
Rxrg	A	G	1: 167,613,805	S51G	probably benign	Het
S1pr3	A	T	13: 51,419,439	I219F	probably damaging	Het
Sec23b	A	T	2: 144,559,189		probably null	Het
Sfrp5	G	T	19: 42,201,827	T62K	probably benign	Het
Slco1a6	T	A	6: 142,103,100	Y318F	probably damaging	Het
Slit1	A	C	19: 41,614,870	S931A	possibly damaging	Het
Sorl1	A	T	9: 42,071,201	V361E	probably damaging	Het
St6galnac2	A	G	11: 116,684,387	S209P	probably benign	Het
Supt6	C	A	11: 78,231,800	R199L	possibly damaging	Het
Tas2r107	A	C	6: 131,659,384	M234R	probably benign	Het
Tmem72	C	G	6: 116,698,349	V61L	probably benign	Het
Trpm5	C	A	7: 143,069,318		probably benign	Het
Ttn	T	G	2: 76,720,112	T23282P	probably damaging	Het
Ubap2	GCCCGCTTGCCCCGCT	GCCCGCTTGCCCCGCTTGCCCCGCT	4: 41,227,210		probably benign	Het
Ubr3	A	T	2: 69,956,049	R836W	probably benign	Het
Umodl1	A	G	17: 30,986,299		probably null	Het
Ythdf1	A	G	2: 180,919,133		probably null	Het
Zfp780b	T	C	7: 27,971,641	T81A	possibly damaging	Het
Zfp811	T	C	17: 32,797,842	E407G	probably damaging	Het

Other mutations in Nynrin

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01020:Nynrin	APN	14	55868448	missense	probably benign	0.38
IGL01131:Nynrin	APN	14	55872685	missense	probably damaging	1.00
IGL01357:Nynrin	APN	14	55870417	missense	probably benign
IGL01537:Nynrin	APN	14	55872045	missense	possibly damaging	0.87
IGL01583:Nynrin	APN	14	55870511	missense	probably damaging	1.00
IGL01726:Nynrin	APN	14	55864154	missense	probably benign
IGL02161:Nynrin	APN	14	55863984	missense	probably damaging	1.00
IGL02167:Nynrin	APN	14	55863335	missense	probably damaging	1.00
IGL02247:Nynrin	APN	14	55871710	nonsense	probably null
IGL02302:Nynrin	APN	14	55868505	missense	probably benign	0.43
IGL02524:Nynrin	APN	14	55871474	missense	possibly damaging	0.73
IGL02600:Nynrin	APN	14	55863992	missense	probably benign	0.38
IGL02639:Nynrin	APN	14	55870655	missense	probably damaging	1.00
IGL02654:Nynrin	APN	14	55863259	missense	possibly damaging	0.95
IGL02659:Nynrin	APN	14	55866097	unclassified	probably benign
IGL02736:Nynrin	APN	14	55870909	missense	probably damaging	1.00
IGL02949:Nynrin	APN	14	55872380	missense	probably damaging	0.99
PIT4458001:Nynrin	UTSW	14	55863968	missense	probably benign	0.39
R0017:Nynrin	UTSW	14	55872395	missense	probably damaging	1.00
R0078:Nynrin	UTSW	14	55863332	missense	probably damaging	1.00
R0211:Nynrin	UTSW	14	55871798	missense	probably benign	0.08
R0211:Nynrin	UTSW	14	55871798	missense	probably benign	0.08
R0413:Nynrin	UTSW	14	55872191	missense	possibly damaging	0.90
R0609:Nynrin	UTSW	14	55872761	missense	probably damaging	1.00
R0626:Nynrin	UTSW	14	55868035	missense	probably damaging	1.00
R1205:Nynrin	UTSW	14	55854189	intron	probably benign
R1222:Nynrin	UTSW	14	55863541	missense	probably benign	0.02
R1385:Nynrin	UTSW	14	55864899	missense	probably benign	0.00
R1820:Nynrin	UTSW	14	55870378	missense	possibly damaging	0.95
R1829:Nynrin	UTSW	14	55872947	missense	possibly damaging	0.50
R1874:Nynrin	UTSW	14	55863493	missense	probably benign	0.04
R1927:Nynrin	UTSW	14	55863592	missense	probably benign	0.00
R2233:Nynrin	UTSW	14	55872067	missense	possibly damaging	0.83
R3018:Nynrin	UTSW	14	55863410	missense	probably benign	0.00
R3154:Nynrin	UTSW	14	55863587	missense	possibly damaging	0.46
R3853:Nynrin	UTSW	14	55864105	missense	probably benign	0.24
R4648:Nynrin	UTSW	14	55872894	nonsense	probably null
R4722:Nynrin	UTSW	14	55854395	missense	probably damaging	0.97
R4735:Nynrin	UTSW	14	55870168	missense	probably benign	0.03
R4736:Nynrin	UTSW	14	55863997	missense	probably damaging	1.00
R4780:Nynrin	UTSW	14	55863263	missense	probably damaging	1.00
R4804:Nynrin	UTSW	14	55864869	missense	probably benign
R4816:Nynrin	UTSW	14	55872001	missense	probably damaging	1.00
R5307:Nynrin	UTSW	14	55863806	missense	probably damaging	1.00
R5372:Nynrin	UTSW	14	55868491	missense	probably benign	0.01
R5432:Nynrin	UTSW	14	55864466	missense	possibly damaging	0.80
R5800:Nynrin	UTSW	14	55870631	missense	probably damaging	1.00
R5825:Nynrin	UTSW	14	55864226	missense	probably benign	0.00
R6149:Nynrin	UTSW	14	55854323	missense	possibly damaging	0.83
R6244:Nynrin	UTSW	14	55868028	missense	probably damaging	1.00
R6350:Nynrin	UTSW	14	55868076	missense	probably benign	0.19
R6379:Nynrin	UTSW	14	55870391	missense	probably damaging	1.00
R6437:Nynrin	UTSW	14	55871770	missense	probably benign	0.00
R6501:Nynrin	UTSW	14	55863532	missense	probably benign
R6703:Nynrin	UTSW	14	55864478	missense	possibly damaging	0.80
R6907:Nynrin	UTSW	14	55863878	missense	probably benign	0.20
R6908:Nynrin	UTSW	14	55863878	missense	probably benign	0.20
R6928:Nynrin	UTSW	14	55863878	missense	probably benign	0.20
R6934:Nynrin	UTSW	14	55863878	missense	probably benign	0.20
R6935:Nynrin	UTSW	14	55863878	missense	probably benign	0.20
R7197:Nynrin	UTSW	14	55871923	missense	probably benign	0.00
R7204:Nynrin	UTSW	14	55872733	missense	probably damaging	1.00
R7272:Nynrin	UTSW	14	55870415	missense	probably damaging	1.00
R7335:Nynrin	UTSW	14	55863914	missense	probably benign
R7361:Nynrin	UTSW	14	55870400	missense	possibly damaging	0.71
R7368:Nynrin	UTSW	14	55870511	missense	probably damaging	1.00
R7443:Nynrin	UTSW	14	55871416	missense	probably benign	0.18
R7584:Nynrin	UTSW	14	55871584	missense	probably damaging	1.00
R7677:Nynrin	UTSW	14	55870236	missense	probably benign
R7723:Nynrin	UTSW	14	55872045	missense	possibly damaging	0.87
R7776:Nynrin	UTSW	14	55865963	missense	probably damaging	1.00
R7787:Nynrin	UTSW	14	55870523	missense	probably benign
R7842:Nynrin	UTSW	14	55865096	missense	probably damaging	1.00
R7852:Nynrin	UTSW	14	55871429	missense	probably damaging	0.96
R8040:Nynrin	UTSW	14	55871525	missense	probably benign	0.01
R8159:Nynrin	UTSW	14	55863130	missense	probably damaging	0.99
R8159:Nynrin	UTSW	14	55865060	missense	probably benign
R8258:Nynrin	UTSW	14	55863358	missense	possibly damaging	0.95
R8259:Nynrin	UTSW	14	55863358	missense	possibly damaging	0.95
R8343:Nynrin	UTSW	14	55863791	missense	probably benign
R8504:Nynrin	UTSW	14	55870246	missense	probably benign	0.01
R8671:Nynrin	UTSW	14	55870442	missense	possibly damaging	0.52
R8691:Nynrin	UTSW	14	55872649	missense	probably damaging	1.00
R8777:Nynrin	UTSW	14	55871663	missense	probably benign
R8777-TAIL:Nynrin	UTSW	14	55871663	missense	probably benign
R9041:Nynrin	UTSW	14	55871296	missense	possibly damaging	0.83
R9346:Nynrin	UTSW	14	55863038	missense	probably benign	0.01
R9366:Nynrin	UTSW	14	55863130	missense	probably damaging	0.99
R9690:Nynrin	UTSW	14	55870747	missense	probably benign	0.00
RF007:Nynrin	UTSW	14	55866201	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- TCAAAGAGAAGGTTAGCCCG -3'
(R):5'- TCACTGAAGGTGTTTTCTGAGC -3'

Sequencing Primer
(F):5'- AGAAGGTTAGCCCGGGACTTC -3'
(R):5'- CACTGAAGGTGTTTTCTGAGCTGTAG -3'

Posted On

2018-07-24